Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

doi:10.1016/j.nmd.2006.10.008

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Article

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.

Neuromuscular disorders : NMD - 1 Feb 2007

Pénisson-Besnier Isabelle, Biancalana Valérie, Reynier Pascal, Cossée Mireille, Dubas Frédéric

Abstract excerpt

X-linked myotubular myopathy is a congenital myopathy due to mutation in the MTM1 gene, encoding myotubularin. Most of the affected male neonates die early of respiratory failure. The female carriers are usually asymptomatic. The authors report a novel MTM1 mutation in a 77-year-old woman. She presented with progressive ptosis since childhood, proximal limb weakness, and a severe restrictive respiratory...

Topics

Aged, 80 and over
Blepharoptosis
Blotting, Southern
Chromosomes, Human, X
Creatine Kinase
DNA
Dynamin II
Female
Heterozygote
Humans
Lactic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Myopathies, Structural, Congenital

Pedigree

Phenotype

Protein Tyrosine Phosphatases

Protein Tyrosine Phosphatases, Non-Receptor

Respiratory Paralysis

Source

Open in PubMed

Identifiers

PMID: 17251023
DOI: 10.1016/j.nmd.2006.10.008

Genes

MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.PMID 17251023Read ↗

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.Semantic proximity Read ↗

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.Semantic proximity Read ↗

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X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.Semantic proximity Read ↗

X-linked myotubular myopathy: report of a case with novel mutation.Semantic proximity Read ↗

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Semantic proximity Read ↗

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.Semantic proximity Read ↗

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X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.Semantic proximity Read ↗

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.Semantic proximity Read ↗

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